BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. - Archive ouverte HAL Access content directly
Journal Articles Journal of Human Genetics Year : 2006

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

Abstract

BBS8 is one of the eight genes identified to date for Bardet-Biedl syndrome (BBS)-an autosomal recessive condition associated with retinitis pigmentosa, obesity, polydactyly, cognitive impairment and kidney failure. The identification of BBS8 gave the key to the pathogenesis of the condition as a primary ciliary disorder. To date, only three families mutated in the BBS8 gene have been reported. Here, we report on three additional families with BBS8 mutations from a series of 128 BBS families. Two of the three families have homozygous mutations and one has a heterozygous mutation. Mutations in BBS8 probably account for only a minority of BBS families (2%), underlining the difficulty of genotyping heterogeneous conditions.

Dates and versions

hal-00188155 , version 1 (15-11-2007)

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Corinne Stoetzel, Virginie Laurier, Laurence Faivre, André Mégarbané, Fabienne Perrin-Schmitt, et al.. BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.. Journal of Human Genetics, 2006, 51 (1), pp.81-4. ⟨10.1007/s10038-005-0320-2⟩. ⟨hal-00188155⟩
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